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14-September-2008 18:02:42 - B Endothelin receptor type B Identifiers Symbols EDNRB; ABCDS; ETB; ETRB; HSCR; HSCR2 External IDs OMIM: 131244 MGI: 102720 HomoloGene: 89 Gene ontology Molecular function: rhodopsin-like receptor activity endothelin-B receptor activity receptor activity protein binding Cellular component: plasma membrane integral to plasma membrane Biological process: neural crest cell migration regulation of pH negative regulation of adenylate cyclase activity G-protein signaling, coupled to IP3 second messenger phospholipase C activating peripheral nervous system development posterior midgut development sensory perception of sound blood pressure regulation melanocyte differentiation pigmentation during development RNA expression pattern More reference expression data Orthologs Human Mouse Entrez 1910 13618 Ensembl ENSG00000136160 ENSMUSG00000022122 Uniprot P24530 Q8K1V9 Refseq NM_000115 mRNA NP_000106 protein NM_007904 mRNA NP_031930 protein Location Chr 13: 77.37 - 77.39 Mb Chr 14: 102.7 - 102.73 Mb Pubmed search 1 2 Endothelin receptor type B, also known as EDNRB, is a human gene. Endothelin receptor type B is a G protein-coupled receptor which activates a phosphatidylinoitol-calcium second messenger system. Its ligand, endothelin, consists of a family of three potent vasoactive peptides: ET1, ET2, and ET3. Studies suggest that the multigenic disorder, Hirschsprung disease type 2, is due to mutation in endothelin receptor type B gene. A splice variant, named SVR, has been described; the sequence of the ETB-SVR receptor is identical to ETRB except for the intracellular C-terminal domain. While both splice variants bind ET1, they exhibit different responses upon binding which suggests that they may be functionally distinct.1 See also Endothelin receptor References ^ Entrez Gene: EDNRB endothelin receptor type B. Further reading Hofstra RM, Osinga J, Buys CH 1998. Mutations in Hirschsprung disease: when does a mutation contribute to the phenotype.. Eur. J. Hum. Genet. 5 4: 180-5. PMID 9359036. Haendler B, Hechler U, Schleuning WD 1993. Molecular cloning of human endothelin ET receptors ETA and ETB.. J. Cardiovasc. Pharmacol. 20 Suppl 12: S1-4. PMID 1282938. Arai H, Nakao K, Hosoda K, et al. 1993. Molecular cloning of human endothelin receptors and their expression in vascular endothelial cells and smooth muscle cells. Jpn. Circ. J. 56 Suppl 5: 1303-7. PMID 1291713. Ogawa Y, Nakao K, Arai H, et al. 1991. Molecular cloning of a non-isopeptide-selective human endothelin receptor.. Biochem. Biophys. Res. Commun. 178 1: 248-55. PMID 1648908. Cyr C, Huebner K, Druck T, Kris R 1992. Cloning and chromosomal localization of a human endothelin ETA receptor.. Biochem. Biophys. Res. Commun. 181 1: 184-90. PMID 1659806. Nakamuta M, Takayanagi R, Sakai Y, et al. 1991. Cloning and sequence analysis of a cDNA encoding human non-selective type of endothelin receptor.. Biochem. Biophys. Res. Commun. 177 1: 34-9. PMID 1710450. Sakamoto A, Yanagisawa M, Sakurai T, et al. 1991. Cloning and functional expression of human cDNA for the ETB endothelin receptor.. Biochem. Biophys. Res. Commun. 178 2: 656-63. PMID 1713452. Vane J 1991. Endothelins come home to roost.. Nature 348 6303: 673. doi:10.1038/348673a0. PMID 2175394. Puffenberger EG, Kauffman ER, Bolk S, et al. 1995. Identity-by-descent and association mapping of a recessive gene for Hirschsprung disease on human chromosome 13q22.. Hum. Mol. Genet. 3 8: 1217-25. PMID 7987295. Puffenberger EG, Hosoda K, Washington SS, et al. 1995. A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease.. Cell 79 7: 1257-66. PMID 8001158. Baynash AG, Hosoda K, Giaid A, et al. 1995. Interaction of endothelin-3 with endothelin-B receptor is essential for development of epidermal melanocytes and enteric neurons.. Cell 79 7: 1277-85. PMID 8001160. Arai H, Nakao K, Takaya K, et al. 1993. The human endothelin-B receptor gene. Structural organization and chromosomal assignment.. J. Biol. Chem. 268 5: 3463-70. PMID 8429023. Elshourbagy NA, Korman DR, Wu HL, et al. 1993. Molecular characterization and regulation of the human endothelin receptors.. J. Biol. Chem. 268 6: 3873-9. PMID 8440682. Hofstra RM, Osinga J, Tan-Sindhunata G, et al. 1996. A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype Shah-Waardenburg syndrome.. Nat. Genet. 12 4: 445-7. doi:10.1038/ng0496-445. PMID 8630503. Attié T, Till M, Pelet A, et al. 1996. Mutation of the endothelin-receptor B gene in Waardenburg-Hirschsprung disease.. Hum. Mol. Genet. 4 12: 2407-9. PMID 8634719. Elshourbagy NA, Adamou JE, Gagnon AW, et al. 1996. Molecular characterization of a novel human endothelin receptor splice variant.. J. Biol. Chem. 271 41: 25300-7. PMID 8810293. Kusafuka T, Wang Y, Puri P 1997. Novel mutations of the endothelin-B receptor gene in isolated patients with Hirschsprung's disease.. Hum. Mol. Genet. 5 3: 347-9. PMID 8852658. Auricchio A, Casari G, Staiano A, Ballabio A 1997. Endothelin-B receptor mutations in patients with isolated Hirschsprung disease from a non-inbred population.. Hum. Mol. Genet. 5 3: 351-4. PMID 8852659. Amiel J, Attié T, Jan D, et al. 1997. Heterozygous endothelin receptor B EDNRB mutations in isolated Hirschsprung disease.. Hum. Mol. Genet. 5 3: 355-7. PMID 8852660. Freedman NJ, Ament AS, Oppermann M, et al. 1997. Phosphorylation and desensitization of human endothelin A and B receptors. Evidence for G protein-coupled receptor kinase specificity.. J. Biol. Chem. 272 28: 17734-43. PMID 9211925. This article incorporates text from the United States National Library of Medicine, which is in the public domain. This transmembrane receptor-related article is a stub. v d e Transmembrane receptor: G protein-coupled receptors Class A: Rhodopsin like Adrenergic α1 A, B, D, α2 A, B, C, β1, β2, β3 Eicosanoid CysLT 1, 2, LTB4 1, 2, FPRL1, OXE, Prostaglandin DP, EP 1, 2, 3, 4, PGF, Prostacyclin, Thromboxane Neuropeptide B/W 1, 2, FF 1, 2, S, Y 1, 2, 4, 5 Orphan GPR 1, 3, 4, 6, 12, 15, 17, 18, 19, 20, 21, 22, 23, 25, 26, 27, 31, 32, 33, 34, 35, 37, 39, 42, 44, 45, 50, 52, 55, 61, 62, 63, 65, 68, 75, 77, 78, 79, 82, 83, 84, 85, 87, 88, 92, 101, 103, 119, 120, 132, 135, 139, 141, 142, 146, 148, 149, 150, 151, 152, 153, 160, 161, 162, 171, 172, 173, 174, 176, 177, 182 Purinergics Adenosine A1, A2a, A2b, A3, P2Y, 1, 2, 4, 5, 6, 8, 9, 10, 11, 12, 13, 14 Serotonin all but 5-HT3 5-HT1 A, B, D, E, F, 5-HT2 A, B, C, 5-HT 4, 5A, 6, 7 Other Acetylcholine M1, M2, M3, M4, M5 - Adrenomedullin - Anaphylatoxin C3a, C5a - Angiotensin 1, 2 - Apelin - Bile acid - Bombesin BRS3, GRPR, NMBR - Bradykinin B1, B2 - Cannabinoid CB1, CB2 - Chemokine - Cholecystokinin A, B - Dopamine D1, D2, D3, D4, D5 - EBI2 - Endothelin A, B - Estrogen - Formyl peptide 1, L1, L2 - Free fatty acid 1, 2, 3, 4 - FSH - Galanin 1, 2, 3 - Gonadotropin-releasing hormone 1, 2 - Ghrelin - Histamine H1, H2, H3, H4 - Kisspeptin - Luteinizing hormone/choriogonadotropin - Lysophospholipid 1, 2, 3, 4, 5, 6, 7, 8 - MAS 1, 1L, D, E, F, G, X1, X2, X3, X4 - Melanocortin 1, 2, 3, 4, 5 - MCHR 1, 2 - Melatonin 1A, 1B- Motilin - neuromedin B, U 1, 2 - Neurotensin 1, 2 - Opioid Delta, Kappa, Mu, Nociceptin, but not Sigma - Olfactory - Opsin 3, 4, 5, 1LW, 1MW, 1SW, RGR, RRH - Orexin 1, 2 - Oxytocin - Oxoglutarate - PAF - Prokineticin 1, 2 - Prolactin-releasing peptide - Protease-activated 1, 2, 3, 4 - Relaxin 1, 2, 3, 4 - Somatostatin 1, 2, 3, 4, 5 - SREB - Succinate - TAAR 1, 2, 3, 5, 6, 8, 9 - Tachykinin 1, 2, 3 - Thyrotropin - Thyrotropin-releasing hormone - Urotensin-II - Vasopressin 1A, 1B, 2 Class B: Secretin like Brain-specific angiogenesis inhibitor 1, 2, 3 - Cadherin 1, 2, 3 - Calcitonin - CD97 - Corticotropin-releasing hormone 1, 2 - EMR 1, 2, 3 - Glucagon GR, GIPR, GLP1R, GLP2R - Growth hormone releasing hormone - PACAPR1- GPR 56, 64, 97, 98, 110, 111, 112, 113, 114, 115, 116, 123, 124, 125, 126, 128, 133, 143, 144, 157 - Latrophilin 1, 2, 3, ELTD1 - Parathyroid hormone 1, 2 - Secretin - Vasoactive intestinal peptide 1, 2 Class C: Metabotropic glutamate / pheromone Calcium-sensing receptor - GABA B 1, 2 - Glutamate receptor Metabotropic glutamate 1, 2, 3, 4, 5, 6, 7, 8 - GPRC6A - GPR 156, 158, 179 - RAIG 1, 2, 3, 4 - Taste receptors TAS1R 1, 2, 3 TAS2R 1, 3, 4, 5, 8, 9, 10, 12, 13, 14, 16, 38, 39, 40, 41, 43, 44, 45, 46, 47, 48, 49, 50 Frizzled / Smoothened Frizzled 1, 2, 3, 4, 5, 6, 7, 8, 9, 10 - Smoothened Retrieved from http://en..org/wiki/Endothelin_receptor_type_B Categories: Genes on chromosome 13 | Human proteins | Transmembrane receptor stubs | G protein coupled receptorsHidden category: Protein pages needing a picture Views Article Discussion this page History Personal tools Log in / create account Navigation Main page Contents Featured content Current events Random article Search Go Search Interaction Community portal Recent changes Contact Donate to Help Toolbox What links here Related changes Upload file Special pages Printable version Permanent link Cite this page This page was last modified on 8 July 2008, at 11:44
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